Mutations in SCN3A cause early infantile epileptic encephalopathy von Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.

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Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation von Yano, Sho T., MD, PhD, Silver, Kenneth, MD, Young, Richard, MD, DeBrosse, Suzanne D., MD, Ebel, Roseànne S., MS, Swoboda, Kathryn J., MD, Acsadi, Gyula, MD, PhD

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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy von Yoo, Yongjin, Jung, Jane, Lee, Yoo‐Na, Lee, Youngha, Cho, Hyosuk, Na, Eunjung, Hong, JeaYeok, Kim, Eunjin, Lee, Jin Sook, Lee, Je Sang, Hong, Chansik, Park, Sang‐Yoon, Wie, Jinhong, Miller, Kathryn, Shur, Natasha, Clow, Cheryl, Ebel, Roseànne S., DeBrosse, Suzanne D., Henderson, Lindsay B., Willaert, Rebecca, Castaldi, Christopher, Tikhonova, Irina, Bilgüvar, Kaya, Mane, Shrikant, Kim, Ki Joong, Hwang, Yong Seung, Lee, Seok‐Geun, So, Insuk, Lim, Byung Chan, Choi, Hee‐Jung, Seong, Jae Young, Shin, Yong Beom, Jung, Hosung, Chae, Jong‐Hee, Choi, Murim

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Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation von Gunzler, Steven A., DeBrosse, Suzanne D.

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Femmes de guerre à l'époque moderne (domaine français, miroirs étranger) von Auclair, Valérie, Bulgakova, Ekaterina, Charrier-Vozel, Marianne, Cousson, Agnès, Debrosse, Anne, Douay, Françoise, Fischer, Caroline, Gethner, Perry, Giraudier, Fanny, Grenier, Benoît, Guérinot, Sophie, Lesne-Jaffro, Emmanuèle, Pascal, Catherine, Sicco, Debora, Weber, Claude

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Femmes de guerre à l’époque moderne (domaine français, miroirs étrangers): Jouer avec les représentations von Cousson, Agnès, Debrosse, Anne, Charrier-vozel, Marianne

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Résultats de la chirurgie des métastases pulmonaires du CCR dans le cadre d’une stratégie onco-chirurgicale moderne. Étude multicentrique rétrospective von Hammoud, D., Glorion, M., Debrosse, D., Naggara, I., Chapelier, A., Peschaud, F., Assouad, J., Lupinacci, R.

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Results of thoracoscopic pleural abrasion for primary spontaneous pneumothorax von GOSSOT, D, GALETTA, D, STERN, J. B, DEBROSSE, D, CALIANDRO, R, GIRARD, P, GRUNENWALD, D

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency von Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.

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A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia von Higinbotham, Alissa S., DeBrosse, Suzanne D., Kilbane, Camilla W.

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Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype von DeBrosse, Suzanne D., Okajima, Kazuki, Zhang, Shulin, Nakouzi, Ghunwa, Schmotzer, Christine L., Lusk-Kopp, Marilyn, Frohnapfel, Mary Beth, Grahame, George, Kerr, Douglas S.

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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency von Bedoyan, Jirair K., Yang, Samuel P., Ferdinandusse, Sacha, Jack, Rhona M., Miron, Alexander, Grahame, George, DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Wanders, Ronald J.A.

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Thoracoscopic palliative treatment of malignant pleural effusions : Results in 273 patients von ARAPIS, K, CALIANDRO, R, STERN, J.-B, GIRARD, P, DEBROSSE, D, GOSSOT, D

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Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management von Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry von Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J, Newcomb, Tara M, Reyna, Sandra P, Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L, Brown, Candida, Brunkow, Mary E, Chugani, Harry T, Cheyette, Sarah R, Collins, Abigail, DeBrosse, Suzanne D, Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B, King, Mary D, LaSalle, Bernie, Leventer, Richard J, Lewelt, Aga J, Massart, Mylynda B, Mérida, 2nd, Mario R, Ptáček, Louis J, Roach, Jared C, Rust, Robert S, Renault, Francis, Sanger, Terry D, Sotero de Menezes, Marcio A, Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J

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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion von Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.

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An anomalous right pulmonary vein draining to the superior vena cava von Agrafiotis, A C, Le Roux, M, Giol, M, Debrosse, D, Assouad, J

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Mitochondrial diseases in North America: An analysis of the NAMDC Registry von Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio

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Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges von Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell, Anselm, Irina, Collins, Abigail, Cohen, Bruce H, DeBrosse, Suzanne D, Dimmock, David, Falk, Marni J, Ganesh, Jaya, Greene, Carol, Gropman, Andrea L, Haas, Richard, Kahler, Stephen G, Kamholz, John, Kendall, Fran, Korson, Mark S, Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L, Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry von Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J, Newcomb, Tara M, Reyna, Sandra P, Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L, Brown, Candida, Brunkow, Mary E, Chugani, Harry T, Cheyette, Sarah R, Collins, Abigail, DeBrosse, Suzanne D, Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B, King, Mary D, LaSalle, Bernie, Leventer, Richard J, Lewelt, Aga J, Massart, Mylynda B, Mérida, 2nd, Mario R, Ptáček, Louis J, Roach, Jared C, Rust, Robert S, Renault, Francis, Sanger, Terry D, Sotero de Menezes, Marcio A, Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J

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